E81* (p.Glu81Ter) variant of STXBP1 (Syntaxin-binding protein 1)
E81* (p.Glu81Ter) in STXBP1 (Syntaxin-binding protein 1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature and structural context.
E81* (p.Glu81Ter) variant details
- p.Glu81Ter
- rs1461664423
- ClinGen CA375176522
- ClinVar RCV000988249
- TOPMed rs1461664423
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.496
- AlphaMissense 0.12
- MetaLR 0.56
- MetaSVM 0.04
- PolyPhen-2 0.93
- SIFT 0.12
- EVE 0.37
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: STXBP1 Encephalopathy with Epilepsy. (PMID 27905812)